ODCs

Click node...

1 OMIM reference -
1 associated gene
8 signs/symptoms

PROTEIN INTERACTIONS: 1

3 OMIM references -
3 associated genes
No signs/symptoms info

Autosomal dominant brachyolmia

Hereditary cerebral cavernous malformation


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TRPV4	(0.49)	KRIT1

Citations in the biomedical literature:

Autosomal dominant brachyolmia		Hereditary cerebral cavernous malformation
	Synonym(s): - Brachyolmia type 3		Synonym(s): - Familial brain cavernous angioma - Familial brain cavernous hemangioma - Familial cerebral cavernoma - Familial cerebral cavernous malformation - Hereditary brain cavernous angioma - Hereditary brain cavernous hemangioma - Hereditary cerebral cavernoma

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - No MeSH references

Autosomal dominant brachyolmia
	Very frequent - Abnormal vertebral size / shape - Autosomal dominant inheritance - Kyphosis - Platyspondyly - Scoliosis - Short rib cage / thorax - Short stature / dwarfism / nanism Occasional - Metaphyseal anomaly
Hereditary cerebral cavernous malformation
(no data available)